A9V (p.Ala9Val) variant of TNNI3 (Troponin I, cardiac muscle)
A9V (p.Ala9Val) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs771967539
- ClinGen CA050955
- ClinVar RCV003587288
- ExAC rs771967539
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.19
- MetaLR 0.27
- MetaSVM -0.64
- CADD 17.20
- PolyPhen-2 0.05
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available